PMID- 2905656
OWN - NLM
STAT- MEDLINE
DCOM- 19890303
LR  - 20190813
IS  - 0340-6199 (Print)
IS  - 0340-6199 (Linking)
VI  - 148
IP  - 3
DP  - 1988 Dec
TI  - Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase 
      deficiency.
PG  - 228-32
AB  - Prenatal diagnosis of 21-hydroxylase deficiency (21-OHD) in two unrelated embryos 
      and two fetuses was attempted with the Southern hybridization method using the 
      21-hydroxylase (21-OHase) complementary DNA as a probe. The two embryos whose 
      genomic DNA was extracted from their chorionic villi both had four TaqI fragments 
      (3.7 kb, 3.2 kb, 2.4 kb and 2.3 kb) identical to those of their respective 
      parents and normal controls, while the DNA from each proband of these two 
      families lacked with the 3.7 kb and the 2.3 kb fragments corresponding to the 
      functional 21-OHase gene (21-OHase B gene). These findings indicated that none of 
      the embryos examined were deletion homozygotes for the 21-OHase B gene. In the 
      two fetuses, only amniotic fluid cells were available for prenatal diagnosis. The 
      results of Southern hybridization analysis were uninformative since all family 
      members, including the probands and fetuses, had all four TaqI fragments. Linkage 
      studies between 21-OHD and human leukocyte antigen (HLA) haplotypes and those 
      between the disease and restriction fragment length polymorphisms of the 4th 
      complement gene revealed that the fetus of one family was normal. The other fetus 
      could not be diagnosed because a recombination between the class I HLA and the 
      21-OHD loci had occurred in this family.
FAU - Matsumoto, T
AU  - Matsumoto T
AD  - Department of Human Genetics, Nagasaki University School of Medicine, Japan.
FAU - Kondoh, T
AU  - Kondoh T
FAU - Kamei, T
AU  - Kamei T
FAU - Yoshimoto, M
AU  - Yoshimoto M
FAU - Tsuji, Y
AU  - Tsuji Y
FAU - Suzumori, K
AU  - Suzumori K
FAU - Izumi, R
AU  - Izumi R
FAU - Iwatani, N
AU  - Iwatani N
FAU - Niikawa, N
AU  - Niikawa N
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
RN  - 0 (HLA Antigens)
RN  - 9007-49-2 (DNA)
RN  - EC 1.14.- (Steroid Hydroxylases)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
MH  - *Adrenal Hyperplasia, Congenital/diagnosis/etiology
MH  - DNA/*analysis
MH  - Genotype
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Nucleic Acid Hybridization
MH  - Pedigree
MH  - Polymorphism, Restriction Fragment Length
MH  - *Prenatal Diagnosis
MH  - Steroid 21-Hydroxylase/genetics
MH  - Steroid Hydroxylases/*deficiency
EDAT- 1988/12/01 00:00
MHDA- 1988/12/01 00:01
CRDT- 1988/12/01 00:00
PHST- 1988/12/01 00:00 [pubmed]
PHST- 1988/12/01 00:01 [medline]
PHST- 1988/12/01 00:00 [entrez]
AID - 10.1007/BF00441409 [doi]
PST - ppublish
SO  - Eur J Pediatr. 1988 Dec;148(3):228-32. doi: 10.1007/BF00441409.